UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237778702A= | CA2487480111 | RYR2 | c.*2904A= (n.*2904A=) c.11800A= (p.Ser3934=) c.11833A= (p.Ser3945=) c.3989A= c.11812A= (p.Ser3938=) c.1865A= c.11764A= (p.Ser3922=) n.3007A= c.11866A= (p.Ser3956=) c.11863A= (p.Ser3955=) c.11842A= (p.Ser3948=) c.11836A= (p.Ser3946=) c.11830A= (p.Ser3944=) c.11806A= (p.Ser3936=) c.11629A= (p.Ser3877=) c.11773A= (p.Ser3925=) c.11845A= (p.Ser3949=) | |
| 1 | g.237778702A>C | CA007163 | RYR2 | c.*2904A>C (n.*2904A>C) c.11800A>C (p.Ser3934Arg) c.11833A>C (p.Ser3945Arg) c.3989A>C c.11812A>C (p.Ser3938Arg) c.1865A>C c.11764A>C (p.Ser3922Arg) n.3007A>C c.11866A>C (p.Ser3956Arg) c.11863A>C (p.Ser3955Arg) c.11842A>C (p.Ser3948Arg) c.11836A>C (p.Ser3946Arg) c.11830A>C (p.Ser3944Arg) c.11806A>C (p.Ser3936Arg) c.11629A>C (p.Ser3877Arg) c.11773A>C (p.Ser3925Arg) c.11845A>C (p.Ser3949Arg) | ClinVar dbSNP |
| 1 | g.237778702A>G | CA345409171 | RYR2 | c.*2904A>G (n.*2904A>G) c.11800A>G (p.Ser3934Gly) c.11833A>G (p.Ser3945Gly) c.3989A>G c.11812A>G (p.Ser3938Gly) c.1865A>G c.11764A>G (p.Ser3922Gly) n.3007A>G c.11866A>G (p.Ser3956Gly) c.11863A>G (p.Ser3955Gly) c.11842A>G (p.Ser3948Gly) c.11836A>G (p.Ser3946Gly) c.11830A>G (p.Ser3944Gly) c.11806A>G (p.Ser3936Gly) c.11629A>G (p.Ser3877Gly) c.11773A>G (p.Ser3925Gly) c.11845A>G (p.Ser3949Gly) | |
| 1 | g.237778702A>T | CA345409173 | RYR2 | c.*2904A>T (n.*2904A>T) c.11800A>T (p.Ser3934Cys) c.11833A>T (p.Ser3945Cys) c.3989A>T c.11812A>T (p.Ser3938Cys) c.1865A>T c.11764A>T (p.Ser3922Cys) n.3007A>T c.11866A>T (p.Ser3956Cys) c.11863A>T (p.Ser3955Cys) c.11842A>T (p.Ser3948Cys) c.11836A>T (p.Ser3946Cys) c.11830A>T (p.Ser3944Cys) c.11806A>T (p.Ser3936Cys) c.11629A>T (p.Ser3877Cys) c.11773A>T (p.Ser3925Cys) c.11845A>T (p.Ser3949Cys) | |
| 1 | g.237778703G>A | CA345409175 | RYR2 | c.*2905G>A (n.*2905G>A) c.11801G>A (p.Ser3934Asn) c.11834G>A (p.Ser3945Asn) c.3990G>A c.11813G>A (p.Ser3938Asn) c.1866G>A c.11765G>A (p.Ser3922Asn) n.3008G>A c.11867G>A (p.Ser3956Asn) c.11864G>A (p.Ser3955Asn) c.11843G>A (p.Ser3948Asn) c.11837G>A (p.Ser3946Asn) c.11831G>A (p.Ser3944Asn) c.11807G>A (p.Ser3936Asn) c.11630G>A (p.Ser3877Asn) c.11774G>A (p.Ser3925Asn) c.11846G>A (p.Ser3949Asn) | COSMIC |
| 1 | g.237778703G>C | CA345409178 | RYR2 | c.*2905G>C (n.*2905G>C) c.11801G>C (p.Ser3934Thr) c.11834G>C (p.Ser3945Thr) c.3990G>C c.11813G>C (p.Ser3938Thr) c.1866G>C c.11765G>C (p.Ser3922Thr) n.3008G>C c.11867G>C (p.Ser3956Thr) c.11864G>C (p.Ser3955Thr) c.11843G>C (p.Ser3948Thr) c.11837G>C (p.Ser3946Thr) c.11831G>C (p.Ser3944Thr) c.11807G>C (p.Ser3936Thr) c.11630G>C (p.Ser3877Thr) c.11774G>C (p.Ser3925Thr) c.11846G>C (p.Ser3949Thr) | |
| 1 | g.237778703G>T | CA345409181 | RYR2 | c.*2905G>T (n.*2905G>T) c.11801G>T (p.Ser3934Ile) c.11834G>T (p.Ser3945Ile) c.3990G>T c.11813G>T (p.Ser3938Ile) c.1866G>T c.11765G>T (p.Ser3922Ile) n.3008G>T c.11867G>T (p.Ser3956Ile) c.11864G>T (p.Ser3955Ile) c.11843G>T (p.Ser3948Ile) c.11837G>T (p.Ser3946Ile) c.11831G>T (p.Ser3944Ile) c.11807G>T (p.Ser3936Ile) c.11630G>T (p.Ser3877Ile) c.11774G>T (p.Ser3925Ile) c.11846G>T (p.Ser3949Ile) | gnomAD v4 |
| 1 | g.237778704C>A | CA007170 | RYR2 | c.*2906C>A (n.*2906C>A) c.11802C>A (p.Ser3934Arg) c.11835C>A (p.Ser3945Arg) c.3991C>A c.11814C>A (p.Ser3938Arg) c.1867C>A c.11766C>A (p.Ser3922Arg) n.3009C>A c.11868C>A (p.Ser3956Arg) c.11865C>A (p.Ser3955Arg) c.11844C>A (p.Ser3948Arg) c.11838C>A (p.Ser3946Arg) c.11832C>A (p.Ser3944Arg) c.11808C>A (p.Ser3936Arg) c.11631C>A (p.Ser3877Arg) c.11775C>A (p.Ser3925Arg) c.11847C>A (p.Ser3949Arg) | ClinVar dbSNP |
| 1 | g.237778704C= | CA2487480112 | RYR2 | c.*2906C= (n.*2906C=) c.11802C= (p.Ser3934=) c.11835C= (p.Ser3945=) c.3991C= c.11814C= (p.Ser3938=) c.1867C= c.11766C= (p.Ser3922=) n.3009C= c.11868C= (p.Ser3956=) c.11865C= (p.Ser3955=) c.11844C= (p.Ser3948=) c.11838C= (p.Ser3946=) c.11832C= (p.Ser3944=) c.11808C= (p.Ser3936=) c.11631C= (p.Ser3877=) c.11775C= (p.Ser3925=) c.11847C= (p.Ser3949=) | |
| 1 | g.237778704C>G | CA345409183 | RYR2 | c.*2906C>G (n.*2906C>G) c.11802C>G (p.Ser3934Arg) c.11835C>G (p.Ser3945Arg) c.3991C>G c.11814C>G (p.Ser3938Arg) c.1867C>G c.11766C>G (p.Ser3922Arg) n.3009C>G c.11868C>G (p.Ser3956Arg) c.11865C>G (p.Ser3955Arg) c.11844C>G (p.Ser3948Arg) c.11838C>G (p.Ser3946Arg) c.11832C>G (p.Ser3944Arg) c.11808C>G (p.Ser3936Arg) c.11631C>G (p.Ser3877Arg) c.11775C>G (p.Ser3925Arg) c.11847C>G (p.Ser3949Arg) | |
| 1 | g.237778704C>T | CA423824284 | RYR2 | c.*2906C>T (n.*2906C>T) c.11802C>T (p.Ser3934=) c.11835C>T (p.Ser3945=) c.3991C>T c.11814C>T (p.Ser3938=) c.1867C>T c.11766C>T (p.Ser3922=) n.3009C>T c.11868C>T (p.Ser3956=) c.11865C>T (p.Ser3955=) c.11844C>T (p.Ser3948=) c.11838C>T (p.Ser3946=) c.11832C>T (p.Ser3944=) c.11808C>T (p.Ser3936=) c.11631C>T (p.Ser3877=) c.11775C>T (p.Ser3925=) c.11847C>T (p.Ser3949=) | |
| 1 | g.237778705A>C | CA423824287 | RYR2 | c.*2907A>C (n.*2907A>C) c.11803A>C (p.Arg3935=) c.11836A>C (p.Arg3946=) c.3992A>C c.11815A>C (p.Arg3939=) c.1868A>C c.11767A>C (p.Arg3923=) n.3010A>C c.11869A>C (p.Arg3957=) c.11866A>C (p.Arg3956=) c.11845A>C (p.Arg3949=) c.11839A>C (p.Arg3947=) c.11833A>C (p.Arg3945=) c.11809A>C (p.Arg3937=) c.11632A>C (p.Arg3878=) c.11776A>C (p.Arg3926=) c.11848A>C (p.Arg3950=) | |
| 1 | g.237778705A>G | CA345409187 | RYR2 | c.*2907A>G (n.*2907A>G) c.11803A>G (p.Arg3935Gly) c.11836A>G (p.Arg3946Gly) c.3992A>G c.11815A>G (p.Arg3939Gly) c.1868A>G c.11767A>G (p.Arg3923Gly) n.3010A>G c.11869A>G (p.Arg3957Gly) c.11866A>G (p.Arg3956Gly) c.11845A>G (p.Arg3949Gly) c.11839A>G (p.Arg3947Gly) c.11833A>G (p.Arg3945Gly) c.11809A>G (p.Arg3937Gly) c.11632A>G (p.Arg3878Gly) c.11776A>G (p.Arg3926Gly) c.11848A>G (p.Arg3950Gly) | |
| 1 | g.237778705A>T | CA345409193 | RYR2 | c.*2907A>T (n.*2907A>T) c.11803A>T (p.Arg3935Trp) c.11836A>T (p.Arg3946Trp) c.3992A>T c.11815A>T (p.Arg3939Trp) c.1868A>T c.11767A>T (p.Arg3923Trp) n.3010A>T c.11869A>T (p.Arg3957Trp) c.11866A>T (p.Arg3956Trp) c.11845A>T (p.Arg3949Trp) c.11839A>T (p.Arg3947Trp) c.11833A>T (p.Arg3945Trp) c.11809A>T (p.Arg3937Trp) c.11632A>T (p.Arg3878Trp) c.11776A>T (p.Arg3926Trp) c.11848A>T (p.Arg3950Trp) | |
| 1 | g.237778706G>A | CA345409195 | RYR2 | c.*2908G>A (n.*2908G>A) c.11804G>A (p.Arg3935Lys) c.11837G>A (p.Arg3946Lys) c.3993G>A c.11816G>A (p.Arg3939Lys) c.1869G>A c.11768G>A (p.Arg3923Lys) n.3011G>A c.11870G>A (p.Arg3957Lys) c.11867G>A (p.Arg3956Lys) c.11846G>A (p.Arg3949Lys) c.11840G>A (p.Arg3947Lys) c.11834G>A (p.Arg3945Lys) c.11810G>A (p.Arg3937Lys) c.11633G>A (p.Arg3878Lys) c.11777G>A (p.Arg3926Lys) c.11849G>A (p.Arg3950Lys) | gnomAD v4 |
| 1 | g.237778706G>C | CA345409199 | RYR2 | c.*2908G>C (n.*2908G>C) c.11804G>C (p.Arg3935Thr) c.11837G>C (p.Arg3946Thr) c.3993G>C c.11816G>C (p.Arg3939Thr) c.1869G>C c.11768G>C (p.Arg3923Thr) n.3011G>C c.11870G>C (p.Arg3957Thr) c.11867G>C (p.Arg3956Thr) c.11846G>C (p.Arg3949Thr) c.11840G>C (p.Arg3947Thr) c.11834G>C (p.Arg3945Thr) c.11810G>C (p.Arg3937Thr) c.11633G>C (p.Arg3878Thr) c.11777G>C (p.Arg3926Thr) c.11849G>C (p.Arg3950Thr) | |
| 1 | g.237778706G>T | CA345409197 | RYR2 | c.*2908G>T (n.*2908G>T) c.11804G>T (p.Arg3935Met) c.11837G>T (p.Arg3946Met) c.3993G>T c.11816G>T (p.Arg3939Met) c.1869G>T c.11768G>T (p.Arg3923Met) n.3011G>T c.11870G>T (p.Arg3957Met) c.11867G>T (p.Arg3956Met) c.11846G>T (p.Arg3949Met) c.11840G>T (p.Arg3947Met) c.11834G>T (p.Arg3945Met) c.11810G>T (p.Arg3937Met) c.11633G>T (p.Arg3878Met) c.11777G>T (p.Arg3926Met) c.11849G>T (p.Arg3950Met) | |
| 1 | g.237778707G>A | CA423824295 | RYR2 | c.*2909G>A (n.*2909G>A) c.11805G>A (p.Arg3935=) c.11838G>A (p.Arg3946=) c.3994G>A c.11817G>A (p.Arg3939=) c.1870G>A c.11769G>A (p.Arg3923=) n.3012G>A c.11871G>A (p.Arg3957=) c.11868G>A (p.Arg3956=) c.11847G>A (p.Arg3949=) c.11841G>A (p.Arg3947=) c.11835G>A (p.Arg3945=) c.11811G>A (p.Arg3937=) c.11634G>A (p.Arg3878=) c.11778G>A (p.Arg3926=) c.11850G>A (p.Arg3950=) | |
| 1 | g.237778707G>C | CA345409201 | RYR2 | c.*2909G>C (n.*2909G>C) c.11805G>C (p.Arg3935Ser) c.11838G>C (p.Arg3946Ser) c.3994G>C c.11817G>C (p.Arg3939Ser) c.1870G>C c.11769G>C (p.Arg3923Ser) n.3012G>C c.11871G>C (p.Arg3957Ser) c.11868G>C (p.Arg3956Ser) c.11847G>C (p.Arg3949Ser) c.11841G>C (p.Arg3947Ser) c.11835G>C (p.Arg3945Ser) c.11811G>C (p.Arg3937Ser) c.11634G>C (p.Arg3878Ser) c.11778G>C (p.Arg3926Ser) c.11850G>C (p.Arg3950Ser) | |
| 1 | g.237778707G>T | CA345409204 | RYR2 | c.*2909G>T (n.*2909G>T) c.11805G>T (p.Arg3935Ser) c.11838G>T (p.Arg3946Ser) c.3994G>T c.11817G>T (p.Arg3939Ser) c.1870G>T c.11769G>T (p.Arg3923Ser) n.3012G>T c.11871G>T (p.Arg3957Ser) c.11868G>T (p.Arg3956Ser) c.11847G>T (p.Arg3949Ser) c.11841G>T (p.Arg3947Ser) c.11835G>T (p.Arg3945Ser) c.11811G>T (p.Arg3937Ser) c.11634G>T (p.Arg3878Ser) c.11778G>T (p.Arg3926Ser) c.11850G>T (p.Arg3950Ser) | |
| 1 | g.237778708C>A | CA345409207 | RYR2 | c.*2910C>A (n.*2910C>A) c.11806C>A (p.Leu3936Met) c.11839C>A (p.Leu3947Met) c.3995C>A c.11818C>A (p.Leu3940Met) c.1871C>A c.11770C>A (p.Leu3924Met) n.3013C>A c.11872C>A (p.Leu3958Met) c.11869C>A (p.Leu3957Met) c.11848C>A (p.Leu3950Met) c.11842C>A (p.Leu3948Met) c.11836C>A (p.Leu3946Met) c.11812C>A (p.Leu3938Met) c.11635C>A (p.Leu3879Met) c.11779C>A (p.Leu3927Met) c.11851C>A (p.Leu3951Met) | |
| 1 | g.237778708C= | CA2487480113 | RYR2 | c.*2910C= (n.*2910C=) c.11806C= (p.Leu3936=) c.11839C= (p.Leu3947=) c.3995C= c.11818C= (p.Leu3940=) c.1871C= c.11770C= (p.Leu3924=) n.3013C= c.11872C= (p.Leu3958=) c.11869C= (p.Leu3957=) c.11848C= (p.Leu3950=) c.11842C= (p.Leu3948=) c.11836C= (p.Leu3946=) c.11812C= (p.Leu3938=) c.11635C= (p.Leu3879=) c.11779C= (p.Leu3927=) c.11851C= (p.Leu3951=) | |
| 1 | g.237778708C>G | CA345409209 | RYR2 | c.*2910C>G (n.*2910C>G) c.11806C>G (p.Leu3936Val) c.11839C>G (p.Leu3947Val) c.3995C>G c.11818C>G (p.Leu3940Val) c.1871C>G c.11770C>G (p.Leu3924Val) n.3013C>G c.11872C>G (p.Leu3958Val) c.11869C>G (p.Leu3957Val) c.11848C>G (p.Leu3950Val) c.11842C>G (p.Leu3948Val) c.11836C>G (p.Leu3946Val) c.11812C>G (p.Leu3938Val) c.11635C>G (p.Leu3879Val) c.11779C>G (p.Leu3927Val) c.11851C>G (p.Leu3951Val) | |
| 1 | g.237778708C>T | CA423824300 | RYR2 | c.*2910C>T (n.*2910C>T) c.11806C>T (p.Leu3936=) c.11839C>T (p.Leu3947=) c.3995C>T c.11818C>T (p.Leu3940=) c.1871C>T c.11770C>T (p.Leu3924=) n.3013C>T c.11872C>T (p.Leu3958=) c.11869C>T (p.Leu3957=) c.11848C>T (p.Leu3950=) c.11842C>T (p.Leu3948=) c.11836C>T (p.Leu3946=) c.11812C>T (p.Leu3938=) c.11635C>T (p.Leu3879=) c.11779C>T (p.Leu3927=) c.11851C>T (p.Leu3951=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237778709T>A | CA345409212 | RYR2 | c.*2911T>A (n.*2911T>A) c.11807T>A (p.Leu3936Gln) c.11840T>A (p.Leu3947Gln) c.3996T>A c.11819T>A (p.Leu3940Gln) c.1872T>A c.11771T>A (p.Leu3924Gln) n.3014T>A c.11873T>A (p.Leu3958Gln) c.11870T>A (p.Leu3957Gln) c.11849T>A (p.Leu3950Gln) c.11843T>A (p.Leu3948Gln) c.11837T>A (p.Leu3946Gln) c.11813T>A (p.Leu3938Gln) c.11636T>A (p.Leu3879Gln) c.11780T>A (p.Leu3927Gln) c.11852T>A (p.Leu3951Gln) | |
| 1 | g.237778709T>C | CA345409215 | RYR2 | c.*2911T>C (n.*2911T>C) c.11807T>C (p.Leu3936Pro) c.11840T>C (p.Leu3947Pro) c.3996T>C c.11819T>C (p.Leu3940Pro) c.1872T>C c.11771T>C (p.Leu3924Pro) n.3014T>C c.11873T>C (p.Leu3958Pro) c.11870T>C (p.Leu3957Pro) c.11849T>C (p.Leu3950Pro) c.11843T>C (p.Leu3948Pro) c.11837T>C (p.Leu3946Pro) c.11813T>C (p.Leu3938Pro) c.11636T>C (p.Leu3879Pro) c.11780T>C (p.Leu3927Pro) c.11852T>C (p.Leu3951Pro) | |
| 1 | g.237778709T>G | CA345409218 | RYR2 | c.*2911T>G (n.*2911T>G) c.11807T>G (p.Leu3936Arg) c.11840T>G (p.Leu3947Arg) c.3996T>G c.11819T>G (p.Leu3940Arg) c.1872T>G c.11771T>G (p.Leu3924Arg) n.3014T>G c.11873T>G (p.Leu3958Arg) c.11870T>G (p.Leu3957Arg) c.11849T>G (p.Leu3950Arg) c.11843T>G (p.Leu3948Arg) c.11837T>G (p.Leu3946Arg) c.11813T>G (p.Leu3938Arg) c.11636T>G (p.Leu3879Arg) c.11780T>G (p.Leu3927Arg) c.11852T>G (p.Leu3951Arg) | |
| 1 | g.237778710G>A | CA423824305 | RYR2 | c.*2912G>A (n.*2912G>A) c.11808G>A (p.Leu3936=) c.11841G>A (p.Leu3947=) c.3997G>A c.11820G>A (p.Leu3940=) c.1873G>A c.11772G>A (p.Leu3924=) n.3015G>A c.11874G>A (p.Leu3958=) c.11871G>A (p.Leu3957=) c.11850G>A (p.Leu3950=) c.11844G>A (p.Leu3948=) c.11838G>A (p.Leu3946=) c.11814G>A (p.Leu3938=) c.11637G>A (p.Leu3879=) c.11781G>A (p.Leu3927=) c.11853G>A (p.Leu3951=) | dbSNP |
| 1 | g.237778710G>C | CA423824307 | RYR2 | c.*2912G>C (n.*2912G>C) c.11808G>C (p.Leu3936=) c.11841G>C (p.Leu3947=) c.3997G>C c.11820G>C (p.Leu3940=) c.1873G>C c.11772G>C (p.Leu3924=) n.3015G>C c.11874G>C (p.Leu3958=) c.11871G>C (p.Leu3957=) c.11850G>C (p.Leu3950=) c.11844G>C (p.Leu3948=) c.11838G>C (p.Leu3946=) c.11814G>C (p.Leu3938=) c.11637G>C (p.Leu3879=) c.11781G>C (p.Leu3927=) c.11853G>C (p.Leu3951=) | |
| 1 | g.237778710G= | CA2487480114 | RYR2 | c.*2912G= (n.*2912G=) c.11808G= (p.Leu3936=) c.11841G= (p.Leu3947=) c.3997G= c.11820G= (p.Leu3940=) c.1873G= c.11772G= (p.Leu3924=) n.3015G= c.11874G= (p.Leu3958=) c.11871G= (p.Leu3957=) c.11850G= (p.Leu3950=) c.11844G= (p.Leu3948=) c.11838G= (p.Leu3946=) c.11814G= (p.Leu3938=) c.11637G= (p.Leu3879=) c.11781G= (p.Leu3927=) c.11853G= (p.Leu3951=) | |
| 1 | g.237778710G>T | CA423824308 | RYR2 | c.*2912G>T (n.*2912G>T) c.11808G>T (p.Leu3936=) c.11841G>T (p.Leu3947=) c.3997G>T c.11820G>T (p.Leu3940=) c.1873G>T c.11772G>T (p.Leu3924=) n.3015G>T c.11874G>T (p.Leu3958=) c.11871G>T (p.Leu3957=) c.11850G>T (p.Leu3950=) c.11844G>T (p.Leu3948=) c.11838G>T (p.Leu3946=) c.11814G>T (p.Leu3938=) c.11637G>T (p.Leu3879=) c.11781G>T (p.Leu3927=) c.11853G>T (p.Leu3951=) | |
| 1 | g.237778711T>A | CA345409221 | RYR2 | c.*2913T>A (n.*2913T>A) c.11809T>A (p.Trp3937Arg) c.11842T>A (p.Trp3948Arg) c.3998T>A c.11821T>A (p.Trp3941Arg) c.1874T>A c.11773T>A (p.Trp3925Arg) n.3016T>A c.11875T>A (p.Trp3959Arg) c.11872T>A (p.Trp3958Arg) c.11851T>A (p.Trp3951Arg) c.11845T>A (p.Trp3949Arg) c.11839T>A (p.Trp3947Arg) c.11815T>A (p.Trp3939Arg) c.11638T>A (p.Trp3880Arg) c.11782T>A (p.Trp3928Arg) c.11854T>A (p.Trp3952Arg) | COSMIC COSMIC |
| 1 | g.237778711T>C | CA345409224 | RYR2 | c.*2913T>C (n.*2913T>C) c.11809T>C (p.Trp3937Arg) c.11842T>C (p.Trp3948Arg) c.3998T>C c.11821T>C (p.Trp3941Arg) c.1874T>C c.11773T>C (p.Trp3925Arg) n.3016T>C c.11875T>C (p.Trp3959Arg) c.11872T>C (p.Trp3958Arg) c.11851T>C (p.Trp3951Arg) c.11845T>C (p.Trp3949Arg) c.11839T>C (p.Trp3947Arg) c.11815T>C (p.Trp3939Arg) c.11638T>C (p.Trp3880Arg) c.11782T>C (p.Trp3928Arg) c.11854T>C (p.Trp3952Arg) | |
| 1 | g.237778711T>G | CA345409227 | RYR2 | c.*2913T>G (n.*2913T>G) c.11809T>G (p.Trp3937Gly) c.11842T>G (p.Trp3948Gly) c.3998T>G c.11821T>G (p.Trp3941Gly) c.1874T>G c.11773T>G (p.Trp3925Gly) n.3016T>G c.11875T>G (p.Trp3959Gly) c.11872T>G (p.Trp3958Gly) c.11851T>G (p.Trp3951Gly) c.11845T>G (p.Trp3949Gly) c.11839T>G (p.Trp3947Gly) c.11815T>G (p.Trp3939Gly) c.11638T>G (p.Trp3880Gly) c.11782T>G (p.Trp3928Gly) c.11854T>G (p.Trp3952Gly) | |
| 1 | g.237778712G>A | CA345409229 | RYR2 | c.*2914G>A (n.*2914G>A) c.11810G>A (p.Trp3937Ter) c.11843G>A (p.Trp3948Ter) c.3999G>A c.11822G>A (p.Trp3941Ter) c.1875G>A c.11774G>A (p.Trp3925Ter) n.3017G>A c.11876G>A (p.Trp3959Ter) c.11873G>A (p.Trp3958Ter) c.11852G>A (p.Trp3951Ter) c.11846G>A (p.Trp3949Ter) c.11840G>A (p.Trp3947Ter) c.11816G>A (p.Trp3939Ter) c.11639G>A (p.Trp3880Ter) c.11783G>A (p.Trp3928Ter) c.11855G>A (p.Trp3952Ter) | ClinVar |
| 1 | g.237778712G>C | CA345409232 | RYR2 | c.*2914G>C (n.*2914G>C) c.11810G>C (p.Trp3937Ser) c.11843G>C (p.Trp3948Ser) c.3999G>C c.11822G>C (p.Trp3941Ser) c.1875G>C c.11774G>C (p.Trp3925Ser) n.3017G>C c.11876G>C (p.Trp3959Ser) c.11873G>C (p.Trp3958Ser) c.11852G>C (p.Trp3951Ser) c.11846G>C (p.Trp3949Ser) c.11840G>C (p.Trp3947Ser) c.11816G>C (p.Trp3939Ser) c.11639G>C (p.Trp3880Ser) c.11783G>C (p.Trp3928Ser) c.11855G>C (p.Trp3952Ser) | ClinVar dbSNP |
| 1 | g.237778712G= | CA2487480115 | RYR2 | c.*2914G= (n.*2914G=) c.11810G= (p.Trp3937=) c.11843G= (p.Trp3948=) c.3999G= c.11822G= (p.Trp3941=) c.1875G= c.11774G= (p.Trp3925=) n.3017G= c.11876G= (p.Trp3959=) c.11873G= (p.Trp3958=) c.11852G= (p.Trp3951=) c.11846G= (p.Trp3949=) c.11840G= (p.Trp3947=) c.11816G= (p.Trp3939=) c.11639G= (p.Trp3880=) c.11783G= (p.Trp3928=) c.11855G= (p.Trp3952=) | |
| 1 | g.237778712G>T | CA345409235 | RYR2 | c.*2914G>T (n.*2914G>T) c.11810G>T (p.Trp3937Leu) c.11843G>T (p.Trp3948Leu) c.3999G>T c.11822G>T (p.Trp3941Leu) c.1875G>T c.11774G>T (p.Trp3925Leu) n.3017G>T c.11876G>T (p.Trp3959Leu) c.11873G>T (p.Trp3958Leu) c.11852G>T (p.Trp3951Leu) c.11846G>T (p.Trp3949Leu) c.11840G>T (p.Trp3947Leu) c.11816G>T (p.Trp3939Leu) c.11639G>T (p.Trp3880Leu) c.11783G>T (p.Trp3928Leu) c.11855G>T (p.Trp3952Leu) | COSMIC |
| 1 | g.237778713G>A | CA345409242 | RYR2 | c.*2915G>A (n.*2915G>A) c.11811G>A (p.Trp3937Ter) c.11844G>A (p.Trp3948Ter) c.4000G>A c.11823G>A (p.Trp3941Ter) c.1876G>A c.11775G>A (p.Trp3925Ter) n.3018G>A c.11877G>A (p.Trp3959Ter) c.11874G>A (p.Trp3958Ter) c.11853G>A (p.Trp3951Ter) c.11847G>A (p.Trp3949Ter) c.11841G>A (p.Trp3947Ter) c.11817G>A (p.Trp3939Ter) c.11640G>A (p.Trp3880Ter) c.11784G>A (p.Trp3928Ter) c.11856G>A (p.Trp3952Ter) | |
| 1 | g.237778713G>C | CA345409236 | RYR2 | c.*2915G>C (n.*2915G>C) c.11811G>C (p.Trp3937Cys) c.11844G>C (p.Trp3948Cys) c.4000G>C c.11823G>C (p.Trp3941Cys) c.1876G>C c.11775G>C (p.Trp3925Cys) n.3018G>C c.11877G>C (p.Trp3959Cys) c.11874G>C (p.Trp3958Cys) c.11853G>C (p.Trp3951Cys) c.11847G>C (p.Trp3949Cys) c.11841G>C (p.Trp3947Cys) c.11817G>C (p.Trp3939Cys) c.11640G>C (p.Trp3880Cys) c.11784G>C (p.Trp3928Cys) c.11856G>C (p.Trp3952Cys) | |
| 1 | g.237778713G>T | CA345409239 | RYR2 | c.*2915G>T (n.*2915G>T) c.11811G>T (p.Trp3937Cys) c.11844G>T (p.Trp3948Cys) c.4000G>T c.11823G>T (p.Trp3941Cys) c.1876G>T c.11775G>T (p.Trp3925Cys) n.3018G>T c.11877G>T (p.Trp3959Cys) c.11874G>T (p.Trp3958Cys) c.11853G>T (p.Trp3951Cys) c.11847G>T (p.Trp3949Cys) c.11841G>T (p.Trp3947Cys) c.11817G>T (p.Trp3939Cys) c.11640G>T (p.Trp3880Cys) c.11784G>T (p.Trp3928Cys) c.11856G>T (p.Trp3952Cys) | |
| 1 | g.237778714G>A | CA345409245 | RYR2 | c.*2916G>A (n.*2916G>A) c.11812G>A (p.Asp3938Asn) c.11845G>A (p.Asp3949Asn) c.4001G>A c.11824G>A (p.Asp3942Asn) c.1877G>A c.11776G>A (p.Asp3926Asn) n.3019G>A c.11878G>A (p.Asp3960Asn) c.11875G>A (p.Asp3959Asn) c.11854G>A (p.Asp3952Asn) c.11848G>A (p.Asp3950Asn) c.11842G>A (p.Asp3948Asn) c.11818G>A (p.Asp3940Asn) c.11641G>A (p.Asp3881Asn) c.11785G>A (p.Asp3929Asn) c.11857G>A (p.Asp3953Asn) | gnomAD v4 |
| 1 | g.237778714G>C | CA345409248 | RYR2 | c.*2916G>C (n.*2916G>C) c.11812G>C (p.Asp3938His) c.11845G>C (p.Asp3949His) c.4001G>C c.11824G>C (p.Asp3942His) c.1877G>C c.11776G>C (p.Asp3926His) n.3019G>C c.11878G>C (p.Asp3960His) c.11875G>C (p.Asp3959His) c.11854G>C (p.Asp3952His) c.11848G>C (p.Asp3950His) c.11842G>C (p.Asp3948His) c.11818G>C (p.Asp3940His) c.11641G>C (p.Asp3881His) c.11785G>C (p.Asp3929His) c.11857G>C (p.Asp3953His) | |
| 1 | g.237778714G>T | CA345409251 | RYR2 | c.*2916G>T (n.*2916G>T) c.11812G>T (p.Asp3938Tyr) c.11845G>T (p.Asp3949Tyr) c.4001G>T c.11824G>T (p.Asp3942Tyr) c.1877G>T c.11776G>T (p.Asp3926Tyr) n.3019G>T c.11878G>T (p.Asp3960Tyr) c.11875G>T (p.Asp3959Tyr) c.11854G>T (p.Asp3952Tyr) c.11848G>T (p.Asp3950Tyr) c.11842G>T (p.Asp3948Tyr) c.11818G>T (p.Asp3940Tyr) c.11641G>T (p.Asp3881Tyr) c.11785G>T (p.Asp3929Tyr) c.11857G>T (p.Asp3953Tyr) | |
| 1 | g.237778715A>C | CA345409254 | RYR2 | c.*2917A>C (n.*2917A>C) c.11813A>C (p.Asp3938Ala) c.11846A>C (p.Asp3949Ala) c.4002A>C c.11825A>C (p.Asp3942Ala) c.1878A>C c.11777A>C (p.Asp3926Ala) n.3020A>C c.11879A>C (p.Asp3960Ala) c.11876A>C (p.Asp3959Ala) c.11855A>C (p.Asp3952Ala) c.11849A>C (p.Asp3950Ala) c.11843A>C (p.Asp3948Ala) c.11819A>C (p.Asp3940Ala) c.11642A>C (p.Asp3881Ala) c.11786A>C (p.Asp3929Ala) c.11858A>C (p.Asp3953Ala) | |
| 1 | g.237778715A>G | CA345409257 | RYR2 | c.*2917A>G (n.*2917A>G) c.11813A>G (p.Asp3938Gly) c.11846A>G (p.Asp3949Gly) c.4002A>G c.11825A>G (p.Asp3942Gly) c.1878A>G c.11777A>G (p.Asp3926Gly) n.3020A>G c.11879A>G (p.Asp3960Gly) c.11876A>G (p.Asp3959Gly) c.11855A>G (p.Asp3952Gly) c.11849A>G (p.Asp3950Gly) c.11843A>G (p.Asp3948Gly) c.11819A>G (p.Asp3940Gly) c.11642A>G (p.Asp3881Gly) c.11786A>G (p.Asp3929Gly) c.11858A>G (p.Asp3953Gly) | gnomAD v4 |
| 1 | g.237778715A>T | CA345409259 | RYR2 | c.*2917A>T (n.*2917A>T) c.11813A>T (p.Asp3938Val) c.11846A>T (p.Asp3949Val) c.4002A>T c.11825A>T (p.Asp3942Val) c.1878A>T c.11777A>T (p.Asp3926Val) n.3020A>T c.11879A>T (p.Asp3960Val) c.11876A>T (p.Asp3959Val) c.11855A>T (p.Asp3952Val) c.11849A>T (p.Asp3950Val) c.11843A>T (p.Asp3948Val) c.11819A>T (p.Asp3940Val) c.11642A>T (p.Asp3881Val) c.11786A>T (p.Asp3929Val) c.11858A>T (p.Asp3953Val) | |
| 1 | g.237778716T>A | CA345409262 | RYR2 | c.*2918T>A (n.*2918T>A) c.11814T>A (p.Asp3938Glu) c.11847T>A (p.Asp3949Glu) c.4003T>A c.11826T>A (p.Asp3942Glu) c.1879T>A c.11778T>A (p.Asp3926Glu) n.3021T>A c.11880T>A (p.Asp3960Glu) c.11877T>A (p.Asp3959Glu) c.11856T>A (p.Asp3952Glu) c.11850T>A (p.Asp3950Glu) c.11844T>A (p.Asp3948Glu) c.11820T>A (p.Asp3940Glu) c.11643T>A (p.Asp3881Glu) c.11787T>A (p.Asp3929Glu) c.11859T>A (p.Asp3953Glu) | |
| 1 | g.237778716T>C | CA423824322 | RYR2 | c.*2918T>C (n.*2918T>C) c.11814T>C (p.Asp3938=) c.11847T>C (p.Asp3949=) c.4003T>C c.11826T>C (p.Asp3942=) c.1879T>C c.11778T>C (p.Asp3926=) n.3021T>C c.11880T>C (p.Asp3960=) c.11877T>C (p.Asp3959=) c.11856T>C (p.Asp3952=) c.11850T>C (p.Asp3950=) c.11844T>C (p.Asp3948=) c.11820T>C (p.Asp3940=) c.11643T>C (p.Asp3881=) c.11787T>C (p.Asp3929=) c.11859T>C (p.Asp3953=) | |
| 1 | g.237778716T>G | CA345409265 | RYR2 | c.*2918T>G (n.*2918T>G) c.11814T>G (p.Asp3938Glu) c.11847T>G (p.Asp3949Glu) c.4003T>G c.11826T>G (p.Asp3942Glu) c.1879T>G c.11778T>G (p.Asp3926Glu) n.3021T>G c.11880T>G (p.Asp3960Glu) c.11877T>G (p.Asp3959Glu) c.11856T>G (p.Asp3952Glu) c.11850T>G (p.Asp3950Glu) c.11844T>G (p.Asp3948Glu) c.11820T>G (p.Asp3940Glu) c.11643T>G (p.Asp3881Glu) c.11787T>G (p.Asp3929Glu) c.11859T>G (p.Asp3953Glu) |